Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824815 | SCV000965702 | likely pathogenic | Coffin-Siris syndrome 1 | 2014-10-01 | criteria provided, single submitter | clinical testing |